Incidental Mutation 'F6893:Ttll10'
| ID |
202 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttll10
|
| Ensembl Gene |
ENSMUSG00000029074 |
| Gene Name |
tubulin tyrosine ligase-like family, member 10 |
| Synonyms |
4833412E22Rik, 4930595O22Rik, Ttll5 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
F6893 (G3)
of strain
busy
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
156119292-156135274 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 156132775 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 74
(I74T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055671
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051509]
[ENSMUST00000184348]
[ENSMUST00000184684]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000030951
|
| SMART Domains |
Protein: ENSMUSP00000030951
Gene: ENSMUSG00000029074
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
29 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000051509
AA Change: I74T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000055671
Gene: ENSMUSG00000029074
AA Change: I74T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
29 |
N/A |
INTRINSIC |
|
low complexity region
|
63 |
73 |
N/A |
INTRINSIC |
|
low complexity region
|
104 |
118 |
N/A |
INTRINSIC |
|
Pfam:TTL
|
189 |
507 |
1.8e-48 |
PFAM |
|
low complexity region
|
541 |
583 |
N/A |
INTRINSIC |
|
low complexity region
|
587 |
600 |
N/A |
INTRINSIC |
|
low complexity region
|
622 |
638 |
N/A |
INTRINSIC |
|
low complexity region
|
652 |
671 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000097731
|
| SMART Domains |
Protein: ENSMUSP00000095337
Gene: ENSMUSG00000029074
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
92 |
102 |
N/A |
INTRINSIC |
|
low complexity region
|
267 |
282 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138361
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153649
|
| SMART Domains |
Protein: ENSMUSP00000116933
Gene: ENSMUSG00000029074
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
29 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183563
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184348
AA Change: I103T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000139316
Gene: ENSMUSG00000029074
AA Change: I103T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
92 |
102 |
N/A |
INTRINSIC |
|
low complexity region
|
133 |
147 |
N/A |
INTRINSIC |
|
Pfam:TTL
|
218 |
536 |
7.9e-48 |
PFAM |
|
low complexity region
|
570 |
612 |
N/A |
INTRINSIC |
|
low complexity region
|
616 |
629 |
N/A |
INTRINSIC |
|
low complexity region
|
651 |
667 |
N/A |
INTRINSIC |
|
low complexity region
|
681 |
700 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184750
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184684
|
| SMART Domains |
Protein: ENSMUSP00000139077
Gene: ENSMUSG00000029074
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
29 |
N/A |
INTRINSIC |
|
Pfam:TTL
|
100 |
418 |
2.5e-48 |
PFAM |
|
| Meta Mutation Damage Score |
0.0790 |
| Coding Region Coverage |
|
| Validation Efficiency |
88% (165/188) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
G |
A |
7: 119,924,261 (GRCm39) |
V1638M |
probably damaging |
Het |
| Agrn |
C |
T |
4: 156,258,636 (GRCm39) |
R972Q |
probably benign |
Het |
| Anxa3 |
T |
C |
5: 96,972,853 (GRCm39) |
|
probably benign |
Het |
| Bpifa6 |
G |
T |
2: 153,829,078 (GRCm39) |
D202Y |
probably damaging |
Het |
| Ccdc15 |
G |
A |
9: 37,226,936 (GRCm39) |
T346I |
probably damaging |
Homo |
| Celsr3 |
G |
A |
9: 108,712,266 (GRCm39) |
R1731H |
probably benign |
Het |
| Ces4a |
A |
G |
8: 105,873,859 (GRCm39) |
R443G |
possibly damaging |
Het |
| Chd2 |
T |
C |
7: 73,157,620 (GRCm39) |
Q175R |
possibly damaging |
Het |
| Dpyd |
T |
A |
3: 118,597,783 (GRCm39) |
|
probably null |
Het |
| Dscam |
G |
T |
16: 96,857,660 (GRCm39) |
H117N |
possibly damaging |
Het |
| F13a1 |
A |
G |
13: 37,155,999 (GRCm39) |
Y205H |
probably damaging |
Het |
| Fat3 |
A |
C |
9: 15,918,085 (GRCm39) |
L1446R |
probably damaging |
Homo |
| Golga4 |
T |
C |
9: 118,382,525 (GRCm39) |
L515S |
probably damaging |
Het |
| Hoxb1 |
A |
T |
11: 96,256,728 (GRCm39) |
T26S |
probably benign |
Het |
| Igsf10 |
T |
G |
3: 59,238,481 (GRCm39) |
T567P |
probably damaging |
Het |
| Lamb2 |
T |
C |
9: 108,359,755 (GRCm39) |
V365A |
probably benign |
Het |
| Mepe |
A |
G |
5: 104,485,242 (GRCm39) |
I127M |
possibly damaging |
Het |
| Mpi |
A |
T |
9: 57,453,832 (GRCm39) |
M230K |
probably benign |
Homo |
| Myh4 |
A |
G |
11: 67,146,283 (GRCm39) |
D1447G |
probably null |
Homo |
| Or1f19 |
A |
G |
16: 3,411,027 (GRCm39) |
I256V |
possibly damaging |
Het |
| Or1j4 |
A |
G |
2: 36,740,819 (GRCm39) |
T254A |
probably benign |
Het |
| Panx2 |
T |
C |
15: 88,952,213 (GRCm39) |
Y227H |
probably damaging |
Homo |
| Pdzd7 |
A |
G |
19: 45,025,173 (GRCm39) |
W441R |
probably damaging |
Het |
| Poldip2 |
A |
G |
11: 78,410,020 (GRCm39) |
I267M |
probably damaging |
Homo |
| Pros1 |
T |
A |
16: 62,745,002 (GRCm39) |
V539E |
probably damaging |
Het |
| Sacs |
T |
C |
14: 61,450,425 (GRCm39) |
M4157T |
probably benign |
Het |
| Slc45a3 |
A |
G |
1: 131,909,075 (GRCm39) |
E424G |
probably benign |
Homo |
| Slc9a1 |
A |
G |
4: 133,149,457 (GRCm39) |
E761G |
probably benign |
Homo |
| Stab2 |
G |
A |
10: 86,691,035 (GRCm39) |
P2178L |
probably damaging |
Het |
| Syt4 |
C |
T |
18: 31,577,274 (GRCm39) |
V27I |
possibly damaging |
Homo |
| Thumpd1 |
T |
A |
7: 119,319,799 (GRCm39) |
K56* |
probably null |
Het |
| Tpr |
A |
G |
1: 150,269,313 (GRCm39) |
K19E |
possibly damaging |
Homo |
| Txnrd1 |
C |
T |
10: 82,702,823 (GRCm39) |
Q95* |
probably null |
Homo |
| Zc3h7b |
A |
G |
15: 81,662,872 (GRCm39) |
E421G |
possibly damaging |
Homo |
| Zc3hc1 |
G |
T |
6: 30,387,525 (GRCm39) |
D51E |
probably benign |
Homo |
|
| Other mutations in Ttll10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01629:Ttll10
|
APN |
4 |
156,131,351 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02109:Ttll10
|
APN |
4 |
156,131,937 (GRCm39) |
missense |
probably benign |
|
|
IGL02121:Ttll10
|
APN |
4 |
156,132,890 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0366:Ttll10
|
UTSW |
4 |
156,119,612 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0502:Ttll10
|
UTSW |
4 |
156,132,005 (GRCm39) |
splice site |
probably benign |
|
|
R0503:Ttll10
|
UTSW |
4 |
156,132,005 (GRCm39) |
splice site |
probably benign |
|
|
R0523:Ttll10
|
UTSW |
4 |
156,129,818 (GRCm39) |
nonsense |
probably null |
|
|
R0865:Ttll10
|
UTSW |
4 |
156,128,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0907:Ttll10
|
UTSW |
4 |
156,120,621 (GRCm39) |
nonsense |
probably null |
|
|
R1125:Ttll10
|
UTSW |
4 |
156,119,495 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1555:Ttll10
|
UTSW |
4 |
156,119,596 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1797:Ttll10
|
UTSW |
4 |
156,132,024 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3899:Ttll10
|
UTSW |
4 |
156,120,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4426:Ttll10
|
UTSW |
4 |
156,133,018 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R5715:Ttll10
|
UTSW |
4 |
156,129,848 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5762:Ttll10
|
UTSW |
4 |
156,119,438 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5814:Ttll10
|
UTSW |
4 |
156,132,084 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R5958:Ttll10
|
UTSW |
4 |
156,120,523 (GRCm39) |
splice site |
probably null |
|
|
R5994:Ttll10
|
UTSW |
4 |
156,133,189 (GRCm39) |
splice site |
probably null |
|
|
R6084:Ttll10
|
UTSW |
4 |
156,129,814 (GRCm39) |
missense |
probably benign |
0.34 |
|
R7027:Ttll10
|
UTSW |
4 |
156,120,258 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R7719:Ttll10
|
UTSW |
4 |
156,131,665 (GRCm39) |
splice site |
probably null |
|
|
R8010:Ttll10
|
UTSW |
4 |
156,131,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8118:Ttll10
|
UTSW |
4 |
156,129,219 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8167:Ttll10
|
UTSW |
4 |
156,129,213 (GRCm39) |
missense |
probably null |
0.01 |
|
R8213:Ttll10
|
UTSW |
4 |
156,120,691 (GRCm39) |
missense |
probably benign |
0.15 |
|
R8835:Ttll10
|
UTSW |
4 |
156,133,055 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9487:Ttll10
|
UTSW |
4 |
156,127,616 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9639:Ttll10
|
UTSW |
4 |
156,119,503 (GRCm39) |
missense |
probably benign |
0.07 |
|
Z1176:Ttll10
|
UTSW |
4 |
156,132,974 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Ttll10
|
UTSW |
4 |
156,131,895 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
| Nature of Mutation |
 DNA sequencing using the SOLiD technique identified a T to C transition at position 424 of the Ttll10 transcript in exon 4 of 15 total exons. Multiple transcripts of the Ttll10 gene are displayed at Ensembl. The mutated nucleotide causes an isoleucine to threonine substitution at amino acid 103 in isoform 1 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).
|
| Protein Function and Prediction |
The Ttll10gene encodes a 704 amino acid polyglycylase that modifies tubulin and non-tubulin proteins, generating side chains of glycine on the gamma-carboxyl groups of specific glutamate residues of target proteins. The catalytic domain occurs at amino acids169-540 (Uniprot A4Q9F3).
The I103T is predicted to be benign by the PolyPhenprogram. |
| Posted On |
2010-05-04 |
Incidental Mutation